rs28940301, VHL

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
ERYTHROCYTOSIS, FAMILIAL, 2
CUI: C1837915
Disease: ERYTHROCYTOSIS, FAMILIAL, 2
54 0.925 0.040 3 10149894 missense variant C/G snv 0.800 1.000 3 2003 2012
Polycythemia
CUI: C0032461
Disease: Polycythemia
22 0.925 0.040 3 10149894 missense variant C/G snv 0.020 1.000 2 2013 2014